Canonical Allele Identifier: CA359780883

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 2606164
• ClinVar RCV Id: RCV003352530
• dbSNP Id: rs2111920957
• COSMIC: COSM5868658
• MyVariant Identifiers: chr5:g.56170995G>A (hg19) ; chr5:g.56875168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875168G>A , CM000667.2:g.56875168G>A	GRCh38
NC_000005.9:g.56170995G>A , CM000667.1:g.56170995G>A	GRCh37
NC_000005.8:g.56206752G>A	NCBI36
NG_031884.1:g.65096G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1823G>A MANE Select	ENSP00000382423.3:p.Gly608Asp
ENST00000399503.3:c.1823G>A	ENSP00000382423.3:p.Gly608Asp
NM_005921.1:c.1823G>A	NP_005912.1:p.Gly608Asp
XM_005248519.3:c.1445G>A	XP_005248576.2:p.Gly482Asp
XM_011543406.1:c.1568G>A	XP_011541708.1:p.Gly523Asp
XM_011543407.1:c.1686+2163G>A	XP_011541709.1:n.1686+2163G>A
XM_011543408.1:c.1823G>A	XP_011541710.1:p.Gly608Asp
XM_017009484.1:c.1412G>A	XP_016864973.1:p.Gly471Asp
XM_017009485.1:c.1334G>A	XP_016864974.1:p.Gly445Asp
XR_001742068.2:n.1854G>A
NM_005921.2:c.1823G>A MANE Select	NP_005912.1:p.Gly608Asp